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FAM135B family with sequence similarity 135 member B [ Homo sapiens (human) ]

Gene ID: 51059, updated on 5-Mar-2024

Summary

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Official Symbol
FAM135Bprovided by HGNC
Official Full Name
family with sequence similarity 135 member Bprovided by HGNC
Primary source
HGNC:HGNC:28029
See related
Ensembl:ENSG00000147724 AllianceGenome:HGNC:28029
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C8ORFK32
Summary
Predicted to be involved in cellular lipid metabolic process. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.0), brain (RPKM 2.6) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.23
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (138130023..138497730, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (139246275..139615726, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (139142266..139509973, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375776 Neighboring gene uncharacterized LOC401478 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:138979816-138980380 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:139093353-139094000 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:139357155-139357654 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:139555607-139556806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706354-139706854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706855-139707355 Neighboring gene collagen type XXII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139782916-139783886 Neighboring gene MPRA-validated peak7186 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139806119-139806619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139860841-139861342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139925385-139926230 Neighboring gene Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:139965113-139965801 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:139966492-139967180 Neighboring gene NANOG hESC enhancer GRCh37_chr8:140009858-140010359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140033795-140034296 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140181537-140182736 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:140221580-140221764 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:140227217-140228416 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:140294263-140294817 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:140416894-140417542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19572 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140440618-140441118 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140441119-140441619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:140471614-140472148 Neighboring gene Sharpr-MPRA regulatory region 3867 Neighboring gene potassium two pore domain channel subfamily K member 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell. Bi L, et al. Gene, 2021 Mar 10. PMID 33340561
  2. Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients. Sheila M, et al. Neurobiol Dis, 2019 Apr. PMID 30391288
  3. A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression. Dong D, et al. Cancer Res, 2021 Feb 15. PMID 33323378
  4. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. Aslibekyan S, et al. Pharmacogenet Genomics, 2012 Mar. PMID 22228203, Free PMC Article
  5. Common genetic variation and performance on standardized cognitive tests. Cirulli ET, et al. Eur J Hum Genet, 2010 Jul. PMID 20125193, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression.
    Title: A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression.
  2. Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell.
    Title: Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell.
  3. Using microarray analysis reveals novel genes such as FAM135B, dysregulated in Spinal and bulbar muscular atrophy (SBMA). Knockdown of FAM135B results in neurodegeneration, indicating its role in SBMA.
    Title: Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
EBI GWAS Catalog
Common genetic variation and performance on standardized cognitive tests.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33221, MGC126009, MGC126010

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein FAM135B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362965.2 → NP_001349894.1  protein FAM135B

    Status: VALIDATED

    Source sequence(s)
    AC068467, AC103777, AK091433, BC037288, BX110118, H05729
    Consensus CDS
    CCDS6375.2
    UniProtKB/Swiss-Prot
    B5MDB3, O95879, Q2WGJ7, Q3KP46, Q49AJ0
    Conserved Domains (2) summary
    pfam05057
    Location:1136 → 1330
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  2. NM_015912.4 → NP_056996.2  protein FAM135B

    See identical proteins and their annotated locations for NP_056996.2

    Status: VALIDATED

    Source sequence(s)
    AC068467, AC103777, AK091433, BC037288, BX110118
    Consensus CDS
    CCDS6375.2
    UniProtKB/Swiss-Prot
    B5MDB3, O95879, Q2WGJ7, Q3KP46, Q49AJ0
    Related
    ENSP00000378710.1, ENST00000395297.6
    Conserved Domains (2) summary
    pfam05057
    Location:1136 → 1330
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    138130023..138497730 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517062.2 → XP_011515364.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515364.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  2. XM_011517061.3 → XP_011515363.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515363.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  3. XM_011517063.3 → XP_011515365.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515365.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  4. XM_011517060.3 → XP_011515362.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515362.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  5. XM_011517058.3 → XP_011515360.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515360.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  6. XM_017013471.2 → XP_016868960.1  protein FAM135B isoform X3

  7. XM_011517056.3 → XP_011515358.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515358.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  8. XM_011517059.2 → XP_011515361.1  protein FAM135B isoform X1

    See identical proteins and their annotated locations for XP_011515361.1

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1334
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein FAM135

  9. XM_011517065.2 → XP_011515367.1  protein FAM135B isoform X2

    Conserved Domains (2) summary
    pfam05057
    Location:1124 → 1318
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:95 → 154
    DUF3657; Protein of unknown function (DUF3657)

  10. XM_011517069.3 → XP_011515371.1  protein FAM135B isoform X5

    Conserved Domains (1) summary
    pfam05057
    Location:1018 → 1212
    DUF676; Putative serine esterase (DUF676)

  11. XM_011517072.3 → XP_011515374.1  protein FAM135B isoform X8

    Conserved Domains (1) summary
    pfam05057
    Location:939 → 1133
    DUF676; Putative serine esterase (DUF676)

  12. XM_011517073.3 → XP_011515375.1  protein FAM135B isoform X9

    Conserved Domains (1) summary
    pfam05057
    Location:907 → 1101
    DUF676; Putative serine esterase (DUF676)

  13. XM_011517074.2 → XP_011515376.1  protein FAM135B isoform X10

    Conserved Domains (1) summary
    pfam05057
    Location:891 → 1085
    DUF676; Putative serine esterase (DUF676)

  14. XM_047421813.1 → XP_047277769.1  protein FAM135B isoform X4

  15. XM_047421814.1 → XP_047277770.1  protein FAM135B isoform X7

    Related
    ENSP00000276737.6, ENST00000276737.10

  16. XM_011517070.3 → XP_011515372.1  protein FAM135B isoform X6

    Conserved Domains (2) summary
    pfam05057
    Location:1140 → 1216
    DUF676; Putative serine esterase (DUF676)
    pfam12394
    Location:111 → 170
    DUF3657; Protein of unknown function (DUF3657)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    139246275..139615726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360536.1 → XP_054216511.1  protein FAM135B isoform X1

  2. XM_054360541.1 → XP_054216516.1  protein FAM135B isoform X1

  3. XM_054360542.1 → XP_054216517.1  protein FAM135B isoform X1

  4. XM_054360540.1 → XP_054216515.1  protein FAM135B isoform X1

  5. XM_054360539.1 → XP_054216514.1  protein FAM135B isoform X1

  6. XM_054360544.1 → XP_054216519.1  protein FAM135B isoform X3

  7. XM_054360538.1 → XP_054216513.1  protein FAM135B isoform X1

  8. XM_054360537.1 → XP_054216512.1  protein FAM135B isoform X1

  9. XM_054360543.1 → XP_054216518.1  protein FAM135B isoform X2

  10. XM_054360546.1 → XP_054216521.1  protein FAM135B isoform X5

  11. XM_054360549.1 → XP_054216524.1  protein FAM135B isoform X8

  12. XM_054360550.1 → XP_054216525.1  protein FAM135B isoform X9

  13. XM_054360551.1 → XP_054216526.1  protein FAM135B isoform X10

  14. XM_054360545.1 → XP_054216520.1  protein FAM135B isoform X4

  15. XM_054360547.1 → XP_054216522.1  protein FAM135B isoform X6

  16. XM_054360548.1 → XP_054216523.1  protein FAM135B isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q49AJ0.2 GenPept UniProtKB/Swiss-Prot:Q49AJ0

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